ABCA3

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ABCA3
Identifiers
Aliases ABCA3, ATP-binding cassette, sub-family A (ABC1), member 3, ABC-C, ABC3, EST111653, LBM180, SMDP3, ATP binding cassette subfamily A member 3
External IDs MGI: 1351617 HomoloGene: 37437 GeneCards: ABCA3
RNA expression pattern
PBB GE ABCA3 204343 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001089

NM_001039581
NM_013855

RefSeq (protein)

NP_001080

NP_001034670.1
NP_038883.2
NP_001034670
NP_038883

Location (UCSC) Chr 16: 2.28 – 2.34 Mb Chr 17: 24.35 – 24.41 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene.[3][4]

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death.[4]

Clinical significance[edit]

Mutations in ABCA3 are associated to cataract-microcornea syndrome .[5]

It is associated with Surfactant metabolism dysfunction type 3.

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Klugbauer N, Hofmann F (Sep 1996). "Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein". FEBS Lett. 391 (1–2): 61–5. doi:10.1016/0014-5793(96)00700-4. PMID 8706931. 
  4. ^ a b "Entrez Gene: ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3". 
  5. ^ Chen, P; Dai, Y; Wu, X; Wang, Y; Sun, S; Xiao, J; Zhang, Q; Guan, L; Zhao, X; Hao, X; Wu, R; Xie, L (2014). "Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome". Investigative Ophthalmology & Visual Science. 55: 8031–43. doi:10.1167/iovs.14-14098. PMID 25406294. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.